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congenital disorder of glycosylation type IIp
Summary
- Synonym
-
- CDG IIp
- CDG syndrome type IIp
- CDG2P
- CDGIIdp
- Carbohydrate deficient glycoprotein syndrome type IIp
- Congenital disorder of glycosylation type 2p
- TMEM199-CDG
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070268
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003141 | Increased LDL cholesterol concentration |
| HP:0001397 | Hepatic steatosis |
| HP:0012358 | Abnormal protein O-linked glycosylation |
| HP:0001263 | Global developmental delay |
| HP:0010837 | Decreased circulating ceruloplasmin concentration |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0001410 | Decreased liver function |
| HP:0012347 | Abnormal protein N-linked glycosylation |
